Data Sheet 2_MYBPC1-associated congenital myopathy with tremor: further delineation of the

A figshare-hosted PDF details the clinical and pathological phenotype of MYBPC1-associated congenital myopathy in the first documented Italian case. The 73.0 KB document, authored by Daniele Velardo and last updated in May 2026, reports on a young woman presenting with mild axial-proximal weakness and a distinctive high-frequency tremor. It includes results from laboratory tests, electromyography, polygraphic tremor analysis, muscle MRI, biopsy findings, and clinical exome sequencing.

Use Cases

• Characterizing the clinical spectrum of MYBPC1-related disorders based on detailed patient case description
• Correlating genetic variants with pathological muscle biopsy findings based on reported histology
• Investigating the influence of hormonal stimulation on symptom presentation based on the reported case observation
• Studying the tremor phenotype associated with congenital myopathy based on polygraphic analysis results

Strengths

• Provides a detailed, peer-reviewed case report on a rare genetic disorder with only 20 documented cases
• Includes multi-modal clinical data: genetic sequencing, electromyography, muscle MRI, biopsy, and polygraphic tremor analysis
• Released under a permissive CC-BY-4.0 license for reuse

Limitations

• Dataset is a single case report PDF (73.0 KB), representing a sample size of one
• Column-level data structure and variable definitions are unavailable within the PDF format
• Freshness should be verified; last metadata update was 2026-05-13

Provenance

Source

figshare

Collection Method

Clinical case study report

Freshness

Last updated 2026-05-13 22:01:48

Geography

Italy